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Journals / Türkderm-Deri Hastalıkları ve Frengi Arşivi / 2015 / Cilt: 49 - Sayı: 2

bir Türk aile A Turkish family with Clouston syndrome caused by G11R mutation in GJB6

GJB6 geninde G11R mutasyonuna sahip Clouston sendromlu bir Türk aile

Zafer YÜKSEL
Pages
164–166
Publication Date
2022-11-04
DOI
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AI Summary & Key Takeaways

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Additionally, it is suggested that the history of cardiac conduction problems, such as cardiac arrest and sinus bradycardia might be related with mutant Cx30. (Turkderm 2015; 49: 164-6) Key Words: Clouston syndrome, GJB6, G11R, Cx30, Turkish, heart rate

📌 3 Key Takeaways

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Objective & Hypothesis:Clouston syndrome (CS) is an ectodermal dysplasia characterized by nail dystrophy and hair defects and inherited in an autosomal dominant trait (OMIM #129500).
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Key Findings & Data:It is caused by the mutations in GJB6 gene which is encoding connexin 30 (Cx30), a member of connexin family and included in the structure of gap junctions serving in intercellular interactions.
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Conclusion & Impact:Additionally, it is suggested that the history of cardiac conduction problems, such as cardiac arrest and sinus bradycardia might be related with mutant Cx30. (Turkderm 2015; 49: 164-6) Key Words: Clouston syndrome, GJB6, G11R, Cx30, Turkish, heart rate
🔬Design:Research Article
📍Scope:2015 Verileri
⚙️Variables:Domain Parameters

Abstract

Clouston syndrome (CS) is an ectodermal dysplasia characterized by nail dystrophy and hair defects and inherited in an autosomal dominant trait (OMIM #129500). It is caused by the mutations in GJB6 gene which is encoding connexin 30 (Cx30), a member of connexin family and included in the structure of gap junctions serving in intercellular interactions. In this paper, we present a 30-year-old mother and her 3-year- old daughter diagnosed with CS. Seven more family members were also diagnosed as having CS compatible with autosomal dominant trait. The disease causing heterozygous mutation c.31G>A (p.G11R) was found by Sanger sequencing in exon 5 of GJB6. The latter mutation has been reported in several different populations, however, yet it is reported for the first time in a Turkish family. Additionally, it is suggested that the history of cardiac conduction problems, such as cardiac arrest and sinus bradycardia might be related with mutant Cx30. (Turkderm 2015; 49: 164-6) Key Words: Clouston syndrome, GJB6, G11R, Cx30, Turkish, heart rate

Özet

Clouston tırnak distrofisi ve saç tutulumu ile giden otozomal dominant geçişli bir ektodermal displazidir (OMIM #129500). Hücreler arası bağlantı görevi yapan gap junction yapısında yer alan konneksin ailesinin bir üyesi olan konneksin 30'u (Cx30) kodlayan GJB6 genindeki mutasyonlardan kaynaklanmaktadır. Otuz yaşında bir kadın ve üç yaşındaki kızında Clouston sendromu (CS) tanısı kondu. Aile bireyleri tarandığında otozomal dominant kalıtımla uyumlu olacak şekilde 7 bireyin daha aynı kliniğe sahip olduğu görüldü. Hastalık oluşturucu heterozigot c.31G>A (p.G11R) mutasyonu Sanger dizileme yöntemi kullanılarak GJB6 geninin 5. ekzonunda saptandı. Daha önce farklı toplumlarda CS'li hastalarda tanımlanan bu mutasyon Türk ailede ilk kez bildirilmektedir. Ek olarak indeks olguda gözlenen kardiyak arrest ve sinüs bradikardisi gibi kardiyak ileti sorunlarının Cx30 ile ilişkisi olabileceği düşünülmüştür. (Türk­derm 2015; 49: 164-6) Anahtar Kelimeler: Clouston sendromu, GJB6, G11R, Cx30, Türk, kalp hızı

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Cite This Article

YÜKSEL, Z. (2022). bir Türk aile A Turkish family with Clouston syndrome caused by G11R mutation in GJB6. Türkderm-Deri Hastalıkları ve Frengi Arşivi, Cilt: 49 - Sayı: 2, 164–166. https://ajindex.com/articles/621799

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